Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.

Purpose: SLC4A10 encodes a plasma membrane-bound transporter, which mediates Na-dependent HCO import, thus mediating net acid extrusion. Slc4a10 knockout mice show collapsed brain ventricles, an increased seizure threshold, mild behavioral abnormalities, impaired vision, and deafness.

Methods: Utilizing exome/genome sequencing in families with undiagnosed neurodevelopmental disorders and international data sharing, 11 patients from 6 independent families with biallelic variants in SLC4A10 were identified.

Are children with attention-deficit/ hyperactivity disorder (ADHD) more likely to develop celiac disease? A prospective study.

Purpose: The aim of this study was to evaluate whether the prevalence of celiac among attention-deficit/hyperactivity disorder (ADHD) patients is higher than among the normal population.

Methods: The present study was a prospective one investigating ADHD children referred to the Neurology Clinic and Pediatric Ward at Amir Al-Momenin Hospital of Zabol (Sistan and Baluchestan, Iran) in 2019 after their parents' signing of a consent form. All patients underwent Biocard™ Celiac and serology tests.

Protective Effect of Ursodeoxycholic Acid on Liver Function in Pediatric Patients with Seizure Treated with Phenobarbital.

Epilepsy is a common and devastating neurological disease. Its treatment, especially when using phenobarbital, causes liver complications, and it is therefore essential to identify a way to reduce liver complications. This study aimed to investigate the protective effect of ursodeoxycholic acid on liver function in pediatric patients with seizure treated with phenobarbital.

Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.

Background: Pathogenic variants in PEX-genes can affect peroxisome assembly and function and cause Zellweger spectrum disorders (ZSDs), characterized by variable phenotypes in terms of disease severity, age of onset and clinical presentations. So far, defects in at least 15 PEX-genes have been implicated in Mendelian diseases, but in some of the ultra-rare ZSD subtypes genotype-phenotype correlations and disease mechanisms remain elusive.

Methods: We report five families carrying biallelic variants in PEX13.

Elevated serum lead levels in neonates born to mothers suffering from opiate use disorder.

Background: This study was performed to investigate lead levels in neonates born to the mothers suffering from opiate use disorder (OUD) and the association of lead levels with the Apgar score.

Methods: The present cross-sectional study included 56 neonates who were referred to the neonatal ward of Amir-Al Momenin Hospital, Zabol. The neonates were divided into two groups: the neonates whose mothers suffered OUD and the control group.

Transient positivity of anti-tissue transglutaminase IgA autoantibody in febrile children: a case-control study.

Background: Fever is a physiological response activated by integrative interactions between the neuronal and immune systems. The association of fever with the development of autoantibodies against various self-antigens is controversial. We here evaluated if fever was associated with increased levels of anti-tissue transglutaminase (tTG) IgA autoreactive antibodies in children.

Seizure Induced by Defecation in a 15-Year Old Autistic Patient: A Case Report and Literature Review.

Epilepsy in autism is a relatively common phenomenon. However, reflex seizures provoked by multifactorial stimuli are rare in these patients. We here reported the first case of defecation-induced seizure in a 15-year old autistic girl.

Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation.

Purpose: Biallelic CAD variants underlie CAD deficiency (or early infantile epileptic encephalopathy-50, [EIEE-50]), an error of pyrimidine de novo biosynthesis amenable to treatment via the uridine salvage pathway. We further define the genotype and phenotype with a focus on treatment.

Methods: Retrospective case series of 20 patients.

Neurological Complications After Renal Transplantation: A Systematic Review and Meta-Analysis.

The aim of this systematic review and meta-analysis was to evaluate the prevalence of neurological complication after renal transplantation. The searches were conducted by two independent researchers in the international (PubMed, Web of Science, Scopus, and Google Scholar) and national databases (Magiran and SID) to find the relevant studies published in English and Persian languages since the creation of the databases until January 2019 (without time limitations). The keywords used in the search strategy were: neurologic complication, central nervous system, peripheral nervous system, tremor, CVA, encephalopathy, neurological complications, renal transplantation, renal failure, kidney transplantation, immunosuppression, neurotoxicity, opportunistic infections, CNS, cerebrovascular disease, chronic kidney disease, cognitive impairment, and end-stage renal disease, which were combined using the AND, OR, and NOT operators.

Assessment of scaling and corrosion potential of drinking water resources of Iranshahr.

The aim of this study was to evaluate corrosion and scaling potential of drinking water resources Iranshahr in order to considering necessary solutions to solve possible problems including internal corrosion of pipes, deterioration of water quality and reduce of water transfer capacity of distribution network system. The data showed that Langelier index ranged between -1.53 to -0.